Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?
| Affiliation auteurs | !!!! Error affiliation !!!! |
| Titre | Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype? |
| Type de publication | Journal Article |
| Year of Publication | 2020 |
| Auteurs | Tessier A, Boutaud L, Bruel A-L, Thauvin-Robinet C, Roth P, Malan V, Beaujard M-P, Achaiaa A, de Oliveira J, Steffann J, Encha-Razavi F, Faivre L, Bessieres B, Attie-Bitach T |
| Journal | CLINICAL GENETICS |
| Volume | 98 |
| Pagination | 620-621 |
| Date Published | DEC |
| Type of Article | Letter |
| ISSN | 0009-9163 |
| Résumé | We report two fetal cases carrying a de novoMID1mutation and presenting with severe hydrothorax, suggesting the expansion of the phenotype of Opitz GBBB syndrome |
| DOI | 10.1111/cge.13840 |